Summaries for Osteoglophonic Dysplasia

NIH Rare Diseases
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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2645Disease definitionOsteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.EpidemiologyLess than ten cases have been reported so far.Clinical descriptionMain clinical features include craniosynostosis, acrocephaly, a prominent forehead, depressed nasal bridge, hypertelorism, midface hypoplasia, macroglossia, unerupted teeth, short neck, short and bowed limbs, short and broad hands and fingers, and flat feet. The main radiographic features are craniostenosis, fibrous dysplasia, metaphyseal lucencies and platyspondyly. Intelligence is usually normal.EtiologyOGD is caused by mutations in the FGFR1 gene (8p11.2-p11.1).Genetic counselingOGD is transmitted in an autosomal dominant manner.Visit the Orphanet disease page for more resources.

Genetics Home Reference
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Osteoglophonic dysplasia is a condition characterized by abnormal bone growth that leads to severe head and face (craniofacial) abnormalities, dwarfism, and other features. The term osteoglophonic refers to the bones (osteo-) having distinctive hollowed out (-glophonic) areas that appear as holes on x-ray images.

Wikipedia
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Dwarfism, also known as short stature, occurs when an organism is extremely small. In humans, it is... more...